Giuseppe Sessa

Congenital talipes equinovarus: an epidemiological study in Sicily

Background and purpose Congenital talipes equinovarus (clubfoot) can present in 2 forms: “syndromic”, in which other malformations exist, and the more common “idiopathic” form, where there are no other associated malformations. We analyzed the epidemiology of congenital talipes equinovarus in the Sicilian population, looking for potential etiological factors. Patients and methods Among the 801,324 live births recorded between January 1991 and December 2004, 827 cases were registered (560 males; M/F sex ratio: 2.1). Control infants were randomly selected from a historical cohort of live births without any major congenital malformations. Results A positive family history of clubfoot, gender, and maternal smoking were found to be risk factors for clubfoot. Patients with clubfoot were born most frequently during the period January–March. No association was found between clubfoot and reproductive history, peri-conceptional maternal drug exposure, maternal education, or ethnicity. Interpretation Our findings emphasize the importance of birth defects surveillance programs and their usefulness in investigating potential risk factors.

Growing pains: a study of 30 cases and a review of the literature.

Background Data from the literature regarding the clinical profile of growing pains are limited. The purpose of this study was to define the clinical features, familial history, laboratory findings, and therapeutic outcome of growing pains in children. Methods Thirty children (18 male and 12 female; 3 to 14 y of age) who presented with growing pains between January 2006 and December 2007 were enrolled and prospectively followed up for 1 year. The inclusion criterion was lower extremity pain, which was recurrent and lasted for >3 months. The exclusion criteria were any abnormal systemic or local symptoms and signs, joint involvement, and limp or limitation of activity. Laboratory tests, including complete blood count, erythrocyte sedimentation rate, and serum calcium and phosphorus levels, were performed in all children. Results The study group had pain during the night and afternoon in 43.3% and 56.7% of cases, respectively. Both lower limbs were involved in 80% of cases, causing awakening and crying episodes in 40% and 37% of cases, respectively. The frequency of pain was as follows: daily, 5%; weekly, 45%; monthly, 35%; and every 3 months, 15%. The pains were relieved by massaging the affected site in 95% of cases and by analgesics in 5% of children. A family history of growing pains was positive in 20% of patients. All patients had laboratory tests within normal values. Conclusion Growing pain is a frequent noninflammatory syndrome consisting of intermittent, often annoying, pains that affect the lower extremities of children. Clinical diagnosis is easy if precise inclusion and exclusion criteria in the history and physical examinations are strictly followed. Patients and family reassurance is mandatory. Level of Evidence This is a Level I prospective study.

Hypophosphatemic rickets: etiology, clinical features and treatment

Abstract Hypophosphatemic rickets (HR) is a genetic disorder, which prevents sufficient reabsorption of phosphate in the proximal renal tubule, with increased phosphate excretion, resulting in rickets. The more common form of HR is an X-linked inherited trait, with a prevalence of 1/20,000. The defective gene is located on the X chromosome, but females may present with a wide variety of clinical manifestations. The less common form of HR is caused by autosomal-dominant transmission. Activating mutations of the fibroblast growth factor 23 (FGF-23) gene and inactivating mutations in the phosphate regulating gene (PHEX gene with homologies to endopeptidases on the X chromosome), involved in the regulation of FGF-23, have been identified and have been implicated in the pathogenesis of these disturbances. A review of etiopathogenesis and clinical, differential diagnostic and therapeutic aspects of HR, with a particular emphasis on bone impairment, is reported.

Operating theatre ventilation systems and microbial air contamination in total joint replacement surgery: Results of the GISIO-ISChIA study

BACKGROUND Recent studies have shown a higher rate of surgical site infections in hip prosthesis implantation using unidirectional airflow ventilation compared with turbulent ventilation. However, these studies did not measure the air microbial quality of operating theatres (OTs), and assumed it to be compliant with the recommended standards for this ventilation technique. AIM To evaluate airborne microbial contamination in OTs during hip and knee replacement surgery, and compare the findings with values recommended for joint replacement surgery. METHODS Air samplings were performed in 28 OTs supplied with unidirectional, turbulent and mixed airflow ventilation. Samples were collected using passive sampling to determine the index of microbial air contamination (IMA). Active sampling was also performed in some of the OTs. The average number of people in the OT and the number of door openings during the sampling period were recorded. FINDINGS In total, 1228 elective prosthesis procedures (60.1% hip and 39.9% knee) were included in this study. Of passive samplings performed during surgical activity in unidirectional airflow ventilation OTs (U-OTs) and mixed airflow OTs (M-OTs), 58.9% and 87.6% had IMA values >2, respectively. Of samplings performed during surgical activity in turbulent airflow OTs (T-OTs) and in turbulent airflow OTs with the surgical team wearing Steri-Shield Turbo Helmets (TH-OTs), 8.6% and 60% had IMA values ≤ 2, respectively. Positive correlation was found between IMA values and the number of people in the OT and the number of door openings (P < 0.001). In addition, correlation was found between active and passive sampling (P < 0.001). CONCLUSION These findings challenge the belief that unidirectional systems always provide acceptable airborne bacterial counts.

Bilateral Total Hip Arthroplasty in Subjects with Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia (MED) is a rare autosomal dominant skeletal dysplasia caused by abnormalities in the gene(s) coding for type IX collagen and cartilage oligomeric matrix protein. Clinically, the disease is characterized by abnormalities in the epiphyseal cartilage of multiple joints. Orthopedic manifestations include pain and restricted mobility. The disorder, which has a predilection for the femoral head and acetabulum, usually presents from the third to the fourth decade with secondary hip osteoarthritis. We report on 7 subjects affected by multiple epiphyseal dysplasia, which presented hip osteoarthritis in their third decade of life and underwent staged bilateral total hip arthroplasty. All patients experienced pain relief and improved quality of life after surgical treatment.

Biomarkers of Osteosarcoma, Chondrosarcoma, and Ewing Sarcoma

Osteosarcoma is the most frequent malignant bone neoplasm, followed by chondrosarcoma and Ewing sarcoma. The diagnosis of bone neoplasms is generally made through histological evaluation of a biopsy. Clinical and radiological features are also important in aiding diagnosis and to complete the staging of bone cancer. In addition to these, there are several non-specific serological or specific molecular markers for bone neoplasms. In bone tumors, molecular markers increase the accuracy of the diagnosis and assist in subtyping bone tumors. Here, we review these markers and discuss their role in the diagnosis and prognosis of the three most frequent malignant bone neoplasms, namely osteosarcoma, chondrosarcoma, and Ewing sarcoma.

Botulinum Toxin Treatment for Limb Spasticity in Childhood Cerebral Palsy

CP is the most common cause of chronic disability in childhood occurring in 2–2.5/1000 births. It is a severe disorder and a significant number of patients present cognitive delay and difficulty in walking. The use of botulinum toxin (BTX) has become a popular treatment for CP especially for spastic and dystonic muscles while avoiding deformity and pain. Moreover, the combination of physiotherapy, casting, orthotics and injection of BTX may delay or decrease the need for surgical intervention while reserving single-event, multi-level surgery for fixed musculotendinous contractures and bony deformities in older children. This report highlights the utility of BTX in the treatment of cerebral palsy in children. We include techniques for administration, side effects, and possible resistance as well as specific use in the upper and lower limbs muscles.

Pharmacological Therapy of Osteoporosis: A Systematic Current Review of Literature

Osteoporosis is the most common bone disease affecting millions of people worldwide, particularly in elderly or in post-menopausal women. The pathogenesis is useful to understand the possible mechanism of action of anti-osteoporotic drugs. Early diagnosis, possible with several laboratory and instrumental tests, allows a major accuracy in the choice of anti-osteoporosis drugs. Treatment of osteoporosis is strictly related to severity of pathology and consists on prevention of fragility fractures with a correct lifestyle and adequate nutritional supplements, and use of pharmacological therapy, started in patients with osteopenia and history of fragility fracture of the hip or spine. The purpose of this review is to focus on main current pharmacological products to treat osteoporotic patients.

Low-Energy Extracorporeal Shock-Wave Therapy in the Treatment of Chronic Insertional Achilles Tendinopathy: A Case Series

Introduction. We report the results of a series of 40 patients with chronic insertional Achilles tendinopathy treated with low-energy ESWT after the failure of a 3-month program of eccentric exercises alone. Methods and Materials. 40 patients, 28 (70%) males and 12 (30%) females, were treated between January and December 2014. All patients were previously treated with only eccentric exercises for a 3-month period. The treatment protocol included 4 sessions of ESWT with a 2-week interval, from 800 shots in each one (4 Hz, 14 KeV), together with eccentric exercises. Visual Analogue Scale (VAS) and American Orthopedic Foot and Ankle Society (AOFAS) Hindfoot score were recorded. Results. At the 12-month follow-up, 26 (65.0%) patients did not complain about pain (VAS < 2), 11 (27.5%) patients got back to normal activities despite residual pain (VAS 2–4), and 3 (7.5%) of the patients still complained about pain (VAS > 4). There was no significative improvement in both scores after eccentric exercises alone. Mean VAS improvement was 5.8 ± 1.3 SD points (P < 0.001). Mean AOFAS Hindfoot score improvement was 19.8 ± 5.0 SD points (P < 0.001). Conclusions. ESWT is recommended, in combination with an eccentric exercise program, in patients with chronic Achilles tendinopathy being both insertional and not.

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports

AbstractPigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications.We studied the occurrence and features of HOG in the 114 children and adults with mosaic pigmentary disorders of the Ito type diagnosed and followed up (from 2 to 22 years; average follow-up 16 years) at our Institutions.Eight patients (5 M, 3 F; aged 4 to 25 years; median age 16 years) out of the 114 analyzed (7%) fulfilled the criteria for unilateral HOG, with differences in diameter ranging from 0.4 to 4.0 cm (upper limbs) and 1.0 to 9.0 cm (lower limbs). Moreover, among these 8 patients, 5/8 filled in the 75th to 90th percentile for height; 6/8 had associated kyphoscoliosis; and 5/8 showed cognitive delays. No tumour complications were recorded. Overall, 6/8 HOG patients presented with additional (extracutaneous) syndromic manifestations, apart from the HOG (ie, with a clinical phenotype of hypomelanosis of Ito).The present study, which includes children and adults with the longest follow-up so far recorded, confirms the association between pigmentary mosaicism of the Ito type and HOG lowering previous estimates (7% vs 16%) for HOG in the context of mosaic hypopigmentation. A careful examination, looking at subtle to moderate asymmetries and associated complications within the spectrum of these mosaic pigmentary disorders, is recommended.